{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T04:20:11Z","timestamp":1790914811424,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T00:00:00Z","timestamp":1765843200000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006313","name":"Barncancerfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006313","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012538","name":"Swedish Cancer Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012538","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007687","name":"Svenska L\u00e4kares\u00e4llskapet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007687","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2025,12]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n Genomic profiling of patients with myeloid neoplasms (MN) may detect variants with high variant allele frequency (VAF), indicating potential germline origin. All current guidelines recommend further investigation of such variants.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To define the proportion of variants with suspected germline origin that prompted germline investigation in patients evaluated for MN in the clinical setting.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We included 738 patients investigated for MN in Mid\u2010Sweden between May 2020 and January 2023 with available sequencing data in genes of interest (GOI) according to the Nordic and other international guidelines.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In total, 90 patients (12%) carried pathogenic\/likely pathogenic (P\/LP) variants in GOI according to the Nordic guidelines, with\n TP53<\/jats:italic>\n ,\n RUNX1<\/jats:italic>\n , and\n NRAS<\/jats:italic>\n being the most common (\n n<\/jats:italic>\n \u00a0=\u00a037,\n n<\/jats:italic>\n \u00a0=\u00a027, and\n n<\/jats:italic>\n \u00a0=\u00a09, respectively). The potential germline origin was investigated in 16\/90 (18%) patients. Two patients (2\/16, 12.5%) with germline variants were identified (\n DDX41<\/jats:italic>\n and\n RUNX1<\/jats:italic>\n ,\n n<\/jats:italic>\n \u00a0=\u00a01, respectively). In patients treated with allogeneic stem\u2010cells transplantation (\n n<\/jats:italic>\n \u00a0=\u00a015) the investigation rate was higher (7\/15, 47%,\n p<\/jats:italic>\n \u00a0<\u00a00.005) compared to the non\u2010transplanted ones. Applying the European Leukemia Net (ELN) guidelines the number of patients with variants in GOI increased up to 177 mainly due to the inclusion of\n TET2<\/jats:italic>\n , while application of other international guidelines leads to similar results with the Nordic ones.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n We report a low investigation rate for variants of suspected germline origin detected during the genomic profiling of patients investigated for MN in the clinical setting. Our study underscores the need for further awareness regarding germline investigation for hematological malignancies.<\/jats:p>\n \n Trial Registration<\/jats:bold>\n : The authors have confirmed clinical trial registration is not needed for this submission.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jha2.70206","type":"journal-article","created":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T15:21:47Z","timestamp":1765898507000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Low Rate of Germline Investigation for Variants of Suspected Germline Origin Detected During the Diagnostic Work\u2010Up of Myeloid Neoplasms"],"prefix":"10.1002","volume":"6","author":[{"given":"Ahmed","family":"Al\u2010Djaber","sequence":"first","affiliation":[{"name":"Department of Immunology, Genetics and Pathology Uppsala University Uppsala 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